Canonical Allele Identifier: CA366079949
Gene: SYNE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152139959T>G , CM000668.2:g.152139959T>G GRCh38
NC_000006.11:g.152461094T>G , CM000668.1:g.152461094T>G GRCh37
NC_000006.10:g.152502787T>G NCBI36
NG_012855.1:g.502441A>C
NG_012855.2:g.502441A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.1983A>C MANE Plus Clinical ENSP00000346701.4:p.Lys661Asn
ENST00000367255.10:c.25449A>C MANE Select ENSP00000356224.5:p.Lys8483Asn
ENST00000423061.6:c.25305A>C ENSP00000396024.1:p.Lys8435Asn
ENST00000672154.1:c.851A>C
ENST00000672169.1:c.1184A>C
ENST00000673173.1:c.1093A>C
ENST00000673451.1:c.1221A>C ENSP00000500189.1:p.Lys407Asn
ENST00000341594.9:c.24234A>C ENSP00000341887.6:p.Lys8078Asn
ENST00000347037.9:n.2197A>C
ENST00000354674.4:c.1983A>C ENSP00000346701.4:p.Lys661Asn
ENST00000367251.7:c.4284A>C ENSP00000356220.3:p.Lys1428Asn
ENST00000367255.9:c.25449A>C ENSP00000356224.5:p.Lys8483Asn
ENST00000367256.9:n.9141A>C
ENST00000367257.8:c.3387A>C ENSP00000356226.4:p.Lys1129Asn
ENST00000409694.6:n.9033A>C
ENST00000423061.5:c.25305A>C ENSP00000396024.1:p.Lys8435Asn
ENST00000460912.6:n.2063A>C
ENST00000478916.5:n.4471A>C
ENST00000536990.5:n.2286A>C
ENST00000539504.5:c.1914A>C ENSP00000441052.1:p.Lys638Asn
NM_033071.3:c.25305A>C NP_149062.1:p.Lys8435Asn
NM_182961.3:c.25449A>C NP_892006.3:p.Lys8483Asn
XM_006715407.1:c.25554A>C XP_006715470.1:p.Lys8518Asn
XM_006715408.1:c.25542A>C XP_006715471.1:p.Lys8514Asn
XM_006715409.1:c.25533A>C XP_006715472.1:p.Lys8511Asn
XM_006715410.1:c.25554A>C XP_006715473.1:p.Lys8518Asn
XM_006715411.1:c.25503A>C XP_006715474.1:p.Lys8501Asn
XM_006715412.1:c.25539A>C XP_006715475.1:p.Lys8513Asn
XM_006715413.1:c.25485A>C XP_006715476.1:p.Lys8495Asn
XM_006715414.1:c.25482A>C XP_006715477.1:p.Lys8494Asn
XM_006715415.1:c.25485A>C XP_006715478.1:p.Lys8495Asn
XM_006715416.1:c.25470A>C XP_006715479.1:p.Lys8490Asn
XM_006715417.1:c.25413A>C XP_006715480.1:p.Lys8471Asn
XM_006715420.1:c.25401A>C XP_006715483.1:p.Lys8467Asn
XM_006715421.1:c.25398A>C XP_006715484.1:p.Lys8466Asn
XM_006715422.1:c.25395A>C XP_006715485.1:p.Lys8465Asn
XM_006715423.1:c.25554A>C XP_006715486.1:p.Lys8518Asn
XM_006715424.1:c.25554A>C XP_006715487.1:p.Lys8518Asn
XM_006715425.1:c.25485A>C XP_006715488.1:p.Lys8495Asn
XM_011535641.1:c.25551A>C XP_011533943.1:p.Lys8517Asn
XM_011535642.1:c.25539A>C XP_011533944.1:p.Lys8513Asn
XM_011535643.1:c.25389A>C XP_011533945.1:p.Lys8463Asn
XM_011535644.1:c.23829A>C XP_011533946.1:p.Lys7943Asn
XM_011535645.1:c.23322A>C XP_011533947.1:p.Lys7774Asn
XM_011535647.1:c.18789A>C XP_011533949.1:p.Lys6263Asn
NM_001347701.1:c.2055A>C NP_001334630.1:p.Lys685Asn
NM_001347702.1:c.1983A>C NP_001334631.1:p.Lys661Asn
XM_006715408.2:c.25542A>C XP_006715471.1:p.Lys8514Asn
XM_006715410.2:c.25554A>C XP_006715473.1:p.Lys8518Asn
XM_006715412.2:c.25539A>C XP_006715475.1:p.Lys8513Asn
XM_006715413.2:c.25485A>C XP_006715476.1:p.Lys8495Asn
XM_006715415.2:c.25485A>C XP_006715478.1:p.Lys8495Asn
XM_006715416.2:c.25470A>C XP_006715479.1:p.Lys8490Asn
XM_006715417.2:c.25413A>C XP_006715480.1:p.Lys8471Asn
XM_006715420.2:c.25401A>C XP_006715483.1:p.Lys8467Asn
XM_006715421.2:c.25398A>C XP_006715484.1:p.Lys8466Asn
XM_006715423.2:c.25554A>C XP_006715486.1:p.Lys8518Asn
XM_006715424.2:c.25554A>C XP_006715487.1:p.Lys8518Asn
XM_006715425.2:c.25485A>C XP_006715488.1:p.Lys8495Asn
XM_011535641.2:c.25551A>C XP_011533943.1:p.Lys8517Asn
XM_011535642.2:c.25539A>C XP_011533944.1:p.Lys8513Asn
XM_011535645.2:c.23322A>C XP_011533947.1:p.Lys7774Asn
XM_017010608.1:c.25554A>C XP_016866097.1:p.Lys8518Asn
XM_017010609.1:c.25554A>C XP_016866098.1:p.Lys8518Asn
XM_017010610.1:c.25533A>C XP_016866099.1:p.Lys8511Asn
XM_017010611.2:c.25527A>C XP_016866100.1:p.Lys8509Asn
XM_017010612.1:c.25476A>C XP_016866101.1:p.Lys8492Asn
XM_017010613.1:c.25482A>C XP_016866102.1:p.Lys8494Asn
XM_017010614.1:c.25398A>C XP_016866103.1:p.Lys8466Asn
XM_017010615.1:c.25329A>C XP_016866104.1:p.Lys8443Asn
XM_017010616.1:c.25485A>C XP_016866105.1:p.Lys8495Asn
XM_017010617.1:c.25482A>C XP_016866106.1:p.Lys8494Asn
XM_017010618.1:c.25470A>C XP_016866107.1:p.Lys8490Asn
XM_017010619.1:c.23829A>C XP_016866108.1:p.Lys7943Asn
NM_182961.4:c.25449A>C MANE Select NP_892006.3:p.Lys8483Asn
NM_001347701.2:c.2055A>C NP_001334630.1:p.Lys685Asn
NM_001347702.2:c.1983A>C MANE Plus Clinical NP_001334631.1:p.Lys661Asn
NM_033071.5:c.25305A>C NP_149062.2:p.Lys8435Asn